Prenatal diagnosis and intrafamilial clinical heterogeneity of Fraser syndrome

Fraser syndrome (MIM 219000) is a rare disorder of autosomal recessive inheritance, characterized by the association of cryptophthalmos, syndactyly and genital abnormalities. Here we report on two cases of Fraser syndrome (cryptophthalmos syndrome) in a non-consanguineous couple, with variable expression in echographic, clinical and autopsy findings. Furthermore, we highlight the difficulties in prenatal diagnosis of Fraser syndrome. Copyright © 2002 John Wiley & Sons, Ltd.     

Effects of ocean temperature on the southern range limits of two understory kelps, <Emphasis Type="Italic">Pterygophora californica</Emphasis> and <Emphasis Type="Italic">Eisenia arborea</Emphasis>, at multiple life-stages

Environmental factors have long been shown to influence species distributions, with range limits often resulting from environmental stressors exceeding organism tolerances. However, these abiotic factors may differentially affect species with multiple life-history stages. Between September 2004 and January 2006, the roles of temperature and nutrient availability in explaining the southern distributions of two understory kelps, Pterygophora californica and Eisenia arborea (Phaeophyceae, Laminariales), were investigated along the coast of California, USA and the Baja California Peninsula, Mexico, by limiting either: (a) tissue nitrogen uptake and storage by adult sporophytes during periods of elevated temperature, and/or (b) production of embryonic sporophytes by microscopic gametophytes. Results suggest that while adult sporophytes of both species are tolerant of high temperatures and low nutrients, reproduction by their microscopic stages is not. Specifically, while E. arborea produced embryonic sporophytes at both 12 and 18°C, temperatures commonly observed throughout the southern portion of its range, P. californica produced sporophytes at 12 but not at 18°C. As a result, it appears that the southern distribution of P. californica, which ends in northern Baja California, Mexico, may be limited by temperature acting on its microscopic stages. In contrast, the ability of E. arborea’s microscopic and adult stages to tolerate elevated temperatures allows it to persist in the warmer southern waters of Baja California, as well as to the north along the California coast where both species co-occur.     

Prenatal diagnosis of Juberg–Hayward syndrome

Juberg–Hayward syndrome is a rare autosomal recessive syndrome characterised by the association of growth retardation, microcephaly, cleft lip and palate, and thumb and radial ray abnormalities. To date, no prenatal cases have been reported. Here, we report on the first prenatal case of Juberg–Hayward syndrome. The diagnosis was established following fetopathological study. Besides the cardinal features of the syndrome, this prenatal case was remarkable for the severity of the short arm malformation and by the finding of big toe agenesis and cerebral abnormalities including hydrocephalus, agenesis of corpus callosum, and cerebellar hypoplasia. We conclude that the diagnosis of Juberg–Hayward syndrome can be discussed prenatally following ultrasound diagnosis of the association of intrauterine growth restriction, microcephaly, thumb/radial anomalies, and cleft lip/palate. Copyright © 2005 John Wiley & Sons, Ltd.     

Simulation of a 100-MW solar-powered thermo-chemical air separation system combined with an oxy-fuel power plant for bio-energy with carbon capture and storage (BECCS)

The combination of concentrated solar power–chemical looping air separation (CSP-CLAS) with an oxy-fuel combustion process for carbon dioxide (CO₂) capture is a novel system to generate electricity from solar power and biomass while being able to store solar power efficiently. In this study, the computer program Advanced System for Process Engineering Plus (ASPEN Plus) was used to develop models to assess the process performance of such a process with manganese (Mn)-based oxygen carriers on alumina (Al₂O₃) support for a location in the region of Seville in Spain, using real solar beam irradiance and electricity demand data. It was shown that the utilisation of olive tree prunings (Olea europaea) as the fuel—an agricultural residue produced locally—results in negative CO₂ emissions (a net removal of CO₂ from the atmosphere). Furthermore, it was found that the process with an annual average electricity output of 18 MW would utilise 2.43% of Andalusia’s olive tree prunings, thereby capturing 260.5 k-tonnes of CO₂, annually. Drawbacks of the system are its relatively high complexity, a significant energy penalty in the CLAS process associated with the steam requirements for the loop-seal fluidisation, and the gas storage requirements. Nevertheless, the utilisation of agricultural residues is highly promising, and given the large quantities produced globally (~?4 billion tonnes/year), it is suggested that other novel processes tailored to these fuels should be investigated, under consideration of a future price on CO₂ emissions, integration potential with a likely electricity grid system, and based on the local conditions and real data.

     

Bi-national assessment of the Great Lakes: SOLEC partnerships

Many administrative jurisdictions have authority over parts of the Great Lakes, sometimes with competing purposes as well as governance at differing scales of time and space. As demand increases for high quality information that is relevant to environmental managers, environmental and natural resource agencies with limited budgets must look to interdisciplinary, collaborative approaches for the collection, analysis and reporting of data. The State of the Lakes Ecosystem Conferences (SOLEC) were begun in 1994 in response to reporting requirements of the Great Lakes Water Quality Agreement between Canada and the U.S. The biennial conferences provide independent, science-based reporting on the state of health of the Great Lakes ecosystem components. A suite of indicators necessary and sufficient to assess Great Lakes ecosystem status was introduced in 1998, and assessments based on a subset of the indicators were presented in 2000. Because SOLEC is a multi-agency, multi-jurisdictional reporting venue, the SOLEC indicators require acceptance by a broad spectrum of stakeholders in the Great Lakes basin. The SOLEC indicators list is expected to provide the basis for government agencies and other organizations to collaborate more effectively and to allocate resources to data collection, evaluation and reporting on the state of the Great Lakes basin ecosystem.     

Development of a diffusive sampling method for determination of methyl isocyanate in air

A diffusive sampling method for determination of methyl isocyanate in air has been developed. A glass fibre filter impregnated with 1-(2-methoxyphenyl)piperazine in a commercially available diffusive sampling device was used to collect methyl isocyanate and the derivative formed was analysed with LC-MS/MS. The sampling rate was determined to be 15.6 ml min(-1), with a relative standard deviation of 7.3%. The sampler was validated for sampling periods from 15 min to 8 h, for relative humidities from 20% to 80% and for concentrations from I to 46 microg m(-3). A field validation was also made and the diffusive sampling results showed no difference compared to a pumped reference method. The impregnated filters have to be stored apart from the diffusive sampler housing and loaded into the sampler prior to each sampling.     

The fate of fipronil in modular estuarine mesocosms

The degradation and corresponding product manifold for the pesticide fipronil was determined in three replicate estuarine mesocosms. Aqueous fipronil concentrations rapidly decreased over the 672 h timescale of the experiment (95% removal). Loss was apparently first-order in fipronil, although there appeared to be a change in the removal mechanism after 96 h that corresponded to a dramatic slowdown in its disappearance. The reduction product of fipronil, fipronil sulfide, was not detected in the water column; however, it formed rapidly in sediments and was identified as the major product of fipronil degradation in the system (20% yield at 672 h, with respect to initial fipronil concentration). Fipronil sulfone is thought to form primarily via biological oxidation; and, although it was generated rapidly in the water column (10% yield), only trace amounts were detected in the sediment (1% yield). The direct photolysis product of fipronil, fipronil desulfinyl, was present in all samples; it formed rapidly in the water column (4% yield) and partitioned into the sediment phase (7% yield) over the course of the experiment. The mass balance on fipronil and associated products was 42% at 672 h.     

Status and Trends of Dissolved Oxygen in Corpus Christi Bay, Texas, U.S.A.

The purpose of this studywas to determine status and long-term trends of dissolved oxygen concentrations (DO) in Corpus Christi Bay, Texas, U.S.A. A 20-year record of randomized stations was used to determine the trend of surface water DO, salinity, and temperature over space and time. A 13-year record of two fixed stations was used to determine the temporal nutrient trends. A 10-year record of fixed stations in the southeastern region of Corpus Christi Bay was used to determine the status of disturbance caused by low DO in bottom waters. From 1982 to 2002, there was a significant decrease in surface water DO at a rate of 0.06 mg L⁻¹ yr⁻¹ and a significant increase in surface water temperature at a rate of 0.07°C yr⁻¹. The southeastern region of Corpus Christi Bay had the lowest average DO, and during July and August, DO are steadily declining at a rate of 0.09 mg L⁻¹ yr⁻¹. It is not likely that eutrophication is causing hypoxia, because freshwater inflow rates have significantly decreased since 1941 and nutrient levels have not changed from 1987 to 2000. Even though long-term trends indicate that average surface DO is decreasing, disturbance by hypoxia appears to be stable, but this may be due to just eight years of data. In fact, if the current trend continues, surface water DO will not meet exceptional aquatic life standards (≤5 mgL⁻¹) in 2032.